ClinVar Genomic variation as it relates to human health
NM_177438.3(DICER1):c.2724del (p.Ile909fs)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_177438.3(DICER1):c.2724del (p.Ile909fs)
Variation ID: 3229343 Accession: VCV003229343.1
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 14q32.13 14: 95107688 (GRCh38) [ NCBI UCSC ] 14: 95574025 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline May 1, 2024 May 1, 2024 Mar 7, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_177438.3:c.2724del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_803187.1:p.Ile909fs frameshift NM_001195573.1:c.2724del NP_001182502.1:p.Ile909fs frameshift NM_001271282.3:c.2724del NP_001258211.1:p.Ile909fs frameshift NM_001291628.2:c.2724del NP_001278557.1:p.Ile909fs frameshift NM_001395677.1:c.2724del NP_001382606.1:p.Ile909fs frameshift NM_001395678.1:c.2724del NP_001382607.1:p.Ile909fs frameshift NM_001395679.1:c.2724del NP_001382608.1:p.Ile909fs frameshift NM_001395680.1:c.2724del NP_001382609.1:p.Ile909fs frameshift NM_001395681.1:c.2724delC NP_001382610.1:p.Ile909Phefs frameshift NM_001395682.1:c.2724del NP_001382611.1:p.Ile909fs frameshift NM_001395683.1:c.2724del NP_001382612.1:p.Ile909fs frameshift NM_001395684.1:c.2724del NP_001382613.1:p.Ile909fs frameshift NM_001395686.1:c.2442del NP_001382615.1:p.Ile815fs frameshift NM_001395687.1:c.2319del NP_001382616.1:p.Ile774fs frameshift NM_001395688.1:c.2319del NP_001382617.1:p.Ile774fs frameshift NM_001395689.1:c.2319del NP_001382618.1:p.Ile774fs frameshift NM_001395690.1:c.2319del NP_001382619.1:p.Ile774fs frameshift NM_001395691.1:c.2157del NP_001382620.1:p.Ile720fs frameshift NM_001395692.1:c.2724del NP_001382621.1:p.Ile909fs frameshift NM_001395693.1:c.2724del NP_001382622.1:p.Ile909fs frameshift NM_001395694.1:c.2724del NP_001382623.1:p.Ile909fs frameshift NM_001395695.1:c.2724del NP_001382624.1:p.Ile909fs frameshift NM_001395696.1:c.2319del NP_001382625.1:p.Ile774fs frameshift NM_001395697.1:c.1041del NP_001382626.1:p.Ile348fs frameshift NM_030621.4:c.2724del NP_085124.2:p.Ile909fs frameshift NR_172715.1:n.3142del non-coding transcript variant NR_172716.1:n.3069del non-coding transcript variant NR_172717.1:n.3236del non-coding transcript variant NR_172718.1:n.3236del non-coding transcript variant NR_172719.1:n.3069del non-coding transcript variant NR_172720.1:n.3069del non-coding transcript variant NC_000014.9:g.95107688del NC_000014.8:g.95574025del NG_016311.1:g.54735del LRG_492:g.54735del LRG_492t1:c.2724del LRG_492p1:p.Ile909Phefs - Protein change
- I348fs, I720fs, I774fs, I815fs, I909fs
- Other names
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- Canonical SPDI
- NC_000014.9:95107687:G:
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
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The frequency of the allele represented by this VCV record.
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- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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DICER1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6480 | 6518 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (1) |
criteria provided, single submitter
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Mar 7, 2024 | RCV004524921.1 |
Submissions - Germline
Classification
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The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
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The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Mar 07, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV005031018.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The c.2724delC pathogenic mutation, located in coding exon 16 of the DICER1 gene, results from a deletion of one nucleotide at nucleotide position 2724, causing … (more)
The c.2724delC pathogenic mutation, located in coding exon 16 of the DICER1 gene, results from a deletion of one nucleotide at nucleotide position 2724, causing a translational frameshift with a predicted alternate stop codon (p.I909Ffs*16). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). As such, this alteration is interpreted as a disease-causing mutation. (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.